Gene
SPECC1L
sperm antigen with calponin homology and coiled-coil domains 1 like
- HGNC 29022↗(opens in a new tab)
- Ensembl gene ENSG00000100014↗(opens in a new tab)
- NCBI Gene 23384↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q11.23
- Coordinates
- Chromosome 22: 24,270,831–24,417,738 (GRCh38)
- Exons
- 17 exons across 146.9 kb
- Protein
- 1,117 amino acids
- Also known as
- KIAA0376
- Previous symbols
- CYTSA
- MANE Select transcript
- ENST00000314328.14NM_015330.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SPECC1L yet. The test sequences your whole genome, so your data includes it all the same.
How SPECC1L is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.8 kb of the gene's 146.9 kb; 3,354 of those bases code for the protein.
How a genome test reads SPECC1L
1
position in SPECC1L where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 146.9 kb of SPECC1L, introns included, not only the 6.8 kb of exons.
Traits linked to SPECC1L
The Human Phenotype Ontology lists these as features of the rare conditions SPECC1L can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cleft palate
- Pit in front of the ear
- Tessier number 4 facial cleft
- Thin red part of the upper lip
- Decreased volume of lip
- Highly arched eyebrow
- Long philtrum
- Prominent nasal bridge
Show 22 more traits
- Thick eyebrow
- Born with teeth
- Coronal craniosynostosis
- Dental crowding
- Downward slanting of the opening between the eyelids
- Drooping lower lip
- Early closure of midline skull joint
- Frontal bossing
- Little lower jaw
- Nasal tip, upturned
- Prominent forehead
- Round face
- Short nose
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Widow's peak
- Broad head shape
- Cleft of the mouth
- Dimple chin
- Early eruption of teeth
- Cleft upper lip
- Depressed nasal bridge
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SPECC1L gene: sperm antigen with calponin homology and coiled-coil domains 1 like. Retrieved 16 October 2026, from https://dantelabs.com/genes/specc1l
Dante Labs. SPECC1L gene: sperm antigen with calponin homology and coiled-coil domains 1 like [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/specc1l
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